Canonical Allele Identifier: CA1149191278

Gene: TMEM240

Linked Data

• dbSNP Id: rs1642193895
• gnomAD v4: 1-1535234-ACAGCCCCGGACAACCTGGGCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1535238_1535258del , CM000663.2:g.1535238_1535258del	GRCh38
NC_000001.10:g.1470618_1470638del , CM000663.1:g.1470618_1470638del	GRCh37
NC_000001.9:g.1460481_1460501del	NCBI36
NG_041807.1:g.10106_10126del
NG_053035.1:g.28096_28116del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378733.9:c.*104_*124del MANE Select	ENSP00000368007.4:n.*104_*124del
ENST00000378733.8:c.*104_*124del	ENSP00000368007.4:n.*104_*124del
ENST00000425828.1:c.*104_*124del	ENSP00000400311.1:n.*104_*124del
NM_001114748.1:c.*104_*124del	NP_001108220.1:n.*104_*124del
NM_001114748.2:c.*104_*124del MANE Select	NP_001108220.1:n.*104_*124del